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  • RET mutation x
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Minoru Kihara Departments of Surgery, Kobe, Japan

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Akira Miyauchi Departments of Surgery, Kobe, Japan

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Hiroshi Yoshida Research, Kuma Hospital, Kobe, Japan

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Osamu Yamada Departments of Surgery, Kobe, Japan

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Hiroo Masuoka Departments of Surgery, Kobe, Japan

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Tomonori Yabuta Departments of Surgery, Kobe, Japan

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Takuya Higashiyama Departments of Surgery, Kobe, Japan

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Mitsuhiro Fukushima Departments of Surgery, Kobe, Japan

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Yasuhiro Ito Departments of Surgery, Kobe, Japan

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Kaoru Kobayashi Departments of Surgery, Kobe, Japan

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Akihiro Miya Departments of Surgery, Kobe, Japan

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What Is Known about This Topic? • To date, there is only one report of a double RET mutation, i.e. V804M/Y806C, in a patient with the MEN 2B phenotype. • Previous in vitro studies have suggested that these double mutations are on the same

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000369134
Volume/Issue:
Volume 3: Issue 4
Free access
Grace Segall Eli Lilly and Company, Indianapolis, IN, USA

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Ravinder Singh Eli Lilly and Company, Indianapolis, IN, USA

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Min-Hua Jen Eli Lilly and Company, Indianapolis, IN, USA

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Isaac Sanderson Adelphi Real World, Bollington, UK

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Alex Rider Adelphi Real World, Bollington, UK

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Katie Lewis Adelphi Real World, Bollington, UK

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Urpo Kiiskinen Eli Lilly and Company, Indianapolis, IN, USA

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). Most cases of MTC carry mutations in the proto-oncogene known as rearranged during transfection ( RET ), which can be either germline (in ≥95% of patients with hereditary MTC) or somatic (in about half of cases of sporadic MTC) ( 5 , 8 , 9 , 10 , 11

Article Type:
Research Article
Collections:
Thyroid cancer - clinical
DOI:
https://doi.org/10.1530/ETJ-23-0172
Volume/Issue:
Volume 13: Issue 1
Open access
Francesca Carlomagno Dipartimento di Biologia e Patologia Cellulare e Molecolare L. Califano, Università degli Studi di Napoli Federico II, Napoli, Italia

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renewal and differentiation [ 6 , 16 ]. In accordance, individuals with germline loss-of-function mutations of RET are affected by congenital megacolon or Hirschsprung disease characterized by intestinal aganglionosis [ 17 ]. Gain-of-function mutations

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000336975
Volume/Issue:
Volume 1: Issue 1
Free access
R. Elisei Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy

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M. Alevizaki Endocrine Unit, Department of Medical Therapeutics, Athens University School of Medicine, Athens, Greece

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B. Conte-Devolx Department of Endocrinology, La Timone Hospital, Aix Marseille University, Marseille, France

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K. Frank-Raue Endocrine Practice, Molecular Laboratory, Heidelberg, Germany

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V. Leite Department of Endocrinology, Portuguese Institute of Oncology and CEDOC, Faculty of Medical Sciences, Lisbon, Portugal

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G.R. Williams Molecular Endocrinology Group, Department of Medicine, Hammersmith Hospital, Imperial College London, London, UK

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suggestive of a hereditary form (QOE = +++; SOR = score 1). (b) If the diagnosis of MTC is made preoperatively, apparently sporadic MTC patients must be investigated for the presence of RET gene mutations (see the following paragraph) and, if positive

Article Type:
Guideline
DOI:
https://doi.org/10.1159/000346174
Volume/Issue:
Volume 1: Issue 4
Free access
Markus Eszlinger Departments of Oncology, Pathology and Laboratory Medicine, Biochemistry and Molecular Biology, and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Heritage Medical Research Building, Calgary, Alberta, Canada
Institute of Pathology, University Hospital Halle (Saale), Halle (Saale), Germany

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Paul Stewardson Department of Medical Science and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada

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John B McIntyre Precision Oncology Hub Laboratory, Alberta Health Services, Tom Baker Cancer Centre, Calgary, Alberta, Canada

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Adrian Box Department of Pathology and Laboratory Medicine, Cumming School of Medicine, University of Calgary, Calgary, Canada

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Moosa Khalil Department of Pathology and Laboratory Medicine, Cumming School of Medicine, University of Calgary, Calgary, Canada

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Martin Hyrcza Department of Pathology and Laboratory Medicine, Cumming School of Medicine, University of Calgary, Calgary, Canada

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Konstantin Koro Department of Pathology and Laboratory Medicine, Cumming School of Medicine, University of Calgary, Calgary, Canada

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Dean Ruether Section of Medical Oncology, Department of Oncology, Cumming School of Medicine, University of Calgary, Calgary, Canada

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Jiahui Wu Department of Medical Science and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada

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Ralf Paschke Departments of Medicine, Oncology, Pathology and Laboratory Medicine, Biochemistry and Molecular Biology, and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Heritage Medical Research Building, Calgary, Alberta, Canada

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mutation-positive medullary thyroid cancer (MTC) or RET gene fusion-positive thyroid cancer. The early approval of these drugs was based on phase 1/2 data ( 1 , 2 , 3 , 4 , 5 ). Patients with thyroid cancer were one of the larger patient groups in the

Article Type:
Research Article
Collections:
Thyroid cancer - basic and translational
DOI:
https://doi.org/10.1530/ETJ-21-0061
Volume/Issue:
Volume 11: Issue 1
Open access
Thomas Karrasch Department of Internal Medicine III, Giessen University Hospital, Giessen

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Saskia M. Herbst Center for and Institute of Human Genetics, University of Regensburg, Regensburg, Germany

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Ute Hehr Center for and Institute of Human Genetics, University of Regensburg, Regensburg, Germany

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Andreas Schmid Department of Internal Medicine III, Giessen University Hospital, Giessen

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Andreas Schäffler Department of Internal Medicine III, Giessen University Hospital, Giessen

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What Is Known about This Topic? • The pathogenic effect of the p.Val804Met missense mutation of the RET proto-oncogene is well described in familial medullary thyroid cancer. In contrast, the clinical significance of the novel missense

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000443730
Volume/Issue:
Volume 5: Issue 1
Free access
Min Ren Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Qianlan Yao Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Longlong Bao Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Zhiting Wang Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Ran Wei Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Qianming Bai Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Bo Ping Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Cai Chang Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
Department of Ultrasound, Fudan University Shanghai Cancer Center, Shanghai, China

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Yu Wang Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China

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Xiaoyan Zhou Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Xiaoli Zhu Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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-activated protein kinase (MAPK) and phosphatidylinositol 3-kinase (PI3K) pathways, including point mutations in BRAF , RAS , RET , TP53 , PTEN , and PIK3CA and chromosomal rearrangements in RET , NTRK , and PPARG ( 2 ). Large-scale studies have fully

Article Type:
Research Article
Collections:
Genetics and omics in thyroidology
DOI:
https://doi.org/10.1530/ETJ-21-0124
Volume/Issue:
Volume 11: Issue 3
Open access
Marine Sitbon Pharmacy Department, Hospital Saint-Louis APHP, Paris, France

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Porhuoy Chou Endocrine Oncology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France

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Seydou Bengaly Endocrine Oncology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France

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Brigitte Poirot Department of Molecular Oncology, Saint-Louis Hospital (AP-HP), Université Paris Cité INSERM U 944, CNRS UMR 7212, Paris, France

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Marie Laloi-Michelin Department of Internal Medicine, Hospital Lariboisière APHP, Paris, France

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Laure Deville Pharmacy Department, Hospital Saint-Louis APHP, Paris, France

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Atanas Pachev Radiology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France

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Ahouefa Kowo-Bille Endocrine Oncology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France

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Clement Dumont Medical Oncology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France

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Cécile N Chougnet Endocrine Oncology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France

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Established facts Paraneoplastic Cushing’s syndrome is dangerous and can be life-threatening. There are few results regarding the efficacy of RET inhibitor treatment in medullary thyroid carcinoma (MTC) with RET mutation

Article Type:
Case Report
Collections:
Thyroid cancer - clinical
DOI:
https://doi.org/10.1530/ETJ-22-0032
Volume/Issue:
Volume 11: Issue 6
Open access
Abdul Rehman Syed University of Calgary, Calgary, Alberta, Canada

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Aakash Gorana Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Alberta, Canada

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Erik Nohr Alberta Precision Laboratories, Molecular Pathology Program, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

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Xiaoli-Kat Yuan Precision Oncology Hub Laboratory, Tom Baker Cancer Centre, Calgary, Alberta, Canada

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Parthiv Amin MASc Department of Radiology, Cumming School of Medicine, University of Calgary, Calgary Alberta, Canada

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Sana Ghaznavi Arnie Charbonneau Cancer Institute, Department of Medicine, Section of Endocrinology, University of Calgary, Calgary, Alberta, Canada

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Debbie Lamb Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Alberta, Canada

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John McIntyre Precision Oncology Hub Laboratory, Tom Baker Cancer Centre, Calgary, Alberta, Canada

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Markus Eszlinger Department of Oncology, Cumming School of Medicine, and Arnie Charbonneau Cancer Institute, University of Calgary, Calgary, Alberta, Canada

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Ralf Paschke Departments of Medicine, Section of Endocrinology, Oncology, Pathology and Laboratory Medicine, Biochemistry and Molecular Biology and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

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) pathway for the large majority of PTCs ( 5 ). Among this cohort, BRAF V600E mutation was present in nearly 60% of PTCs, followed by HRAS and NRAS mutations in 10% of cases and RET fusions in ~5% of cases ( 5 ). Therapeutic approaches that inhibit

Article Type:
Research Article
Collections:
Thyroid cancer - basic and translational
DOI:
https://doi.org/10.1530/ETJ-23-0227
Volume/Issue:
Volume 13: Issue 3
Open access
Abbas Al-Kurd Department of Surgery, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

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David J. Gross Neuroendocrine Tumor Unit, Department of Endocrinology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

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David Zangen Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

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Karine Atlan Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

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Haggi Mazeh Department of Surgery, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

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Simona Grozinsky-Glasberg Neuroendocrine Tumor Unit, Department of Endocrinology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

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add greatly to the available literature. Introduction Multiple endocrine neoplasia (MEN) 2A is an autosomal dominant disorder that results from a mutation in the RET proto-oncogene on chromosome 10 [ 1 , 2 ]. Almost 100% of affected

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000489170
Volume/Issue:
Volume 7: Issue 5
Free access